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NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn) AND Usher syndrome type 1C

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001280393.1

Allele description [Variation Report for NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)]

NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)
HGVS:
  • NC_000011.10:g.17517430C>T
  • NG_011883.2:g.31987G>A
  • NM_001297764.2:c.1198G>A
  • NM_005709.4:c.1255G>A
  • NM_153676.4:c.1211-1140G>AMANE SELECT
  • NP_001284693.1:p.Asp400Asn
  • NP_005700.2:p.Asp419Asn
  • NC_000011.9:g.17538977C>T
  • NG_011883.1:g.31987G>A
Protein change:
D400N
Links:
dbSNP: rs977658619
NCBI 1000 Genomes Browser:
rs977658619
Molecular consequence:
  • NM_153676.4:c.1211-1140G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001297764.2:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005709.4:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 1C
Synonyms:
USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, Acadian variety
Identifiers:
MONDO: MONDO:0010171; MedGen: C1848604; Orphanet: 231169; Orphanet: 886; OMIM: 276904

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001467571Natera, Inc.
no assertion criteria provided
Uncertain significance
(Apr 11, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001467571.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 7, 2023